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Cytopenias and congenital anaemias

Gene: TF

Green List (high evidence)

TF (transferrin)
EnsemblGeneIds (GRCh38): ENSG00000091513
EnsemblGeneIds (GRCh37): ENSG00000091513
OMIM: 190000, Gene2Phenotype
TF is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on publications: PMID:11110675 provides a summary review of all cases for Atransferrinemia caused by variants in TF gene found in the literature including their own study on an America short (9 patients with disorder, 7 unrelated families). PMID:3472216 evidence for mouse model.
Created: 23 Feb 2017, 2:21 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Atransferrinemia, 209300
  • Congenital hypotransferrinemia
OMIM
190000
Clinvar variants
Variants in TF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

24 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

TF was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen

23 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TF were set to 11110675;3472216;10660486;8187613;1862777

23 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TF were set to 11110675

23 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TF were set to Atransferrinemia, 209300;Congenital hypotransferrinemia

23 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TF were set to Atransferrinemia, 209300

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TF was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TF was created by LouiseD